PMC Articles for MedGen (Select 344004) - PMC - NCBI

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Items: 7

Select item 82169081.

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. 2020; 65(2): 187–192. Published online 2019 Oct 28. doi: 10.1038/s10038-019-0691-4

Correction in:: J Hum Genet. 2022; 67(3): 181.

PMCID:: PMC8216908

Article PDF–1007K

Select item 76519932.

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Marzieh Mohseni, Mojdeh Akbari, Kevin T Booth, Mojgan Babanejad, Hela Azaiez, Fariba Ardalani, Sanaz Arzhangi, Khadijeh Jalalvand, Nooshin Nikzat, Fatemeh Ghodratpour, payman jamali, Omid Ali Adeli, Haleh Habibi, Kimia Kahrizi, Hossein Najmabadi

J Hum Genet. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: J Hum Genet. 2020 Jul; 65(7): 609–617. Published online 2020 Mar 30. doi: 10.1038/s10038-020-0740-z

PMCID:: PMC7651993

Article PDF–451K

Select item 67507933.

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China

Ying Lin, Feng Yu, Yuelong Jiao, Feng Zhou

J Int Adv Otol. 2019 Aug; 15(2): 247–252. Published online 2019 Jul 24. doi: 10.5152/iao.2019.6512

PMCID:: PMC6750793

Article PDF–2.4M

Select item 64307294.

Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

Lihua Wu, Yunliang Liu, Jianman Wu, Sheng Chen, Shupin Tang, Yi Jiang, Pu Dai

Biosci Rep. 2019 Mar 29; 39(3): BSR20182241. Prepublished online 2019 Mar 7. Published online 2019 Mar 22. doi: 10.1042/BSR20182241

PMCID:: PMC6430729

Article PDF–851K

Select item 46540565.

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients

Pranav Dinesh Mathur, Sarath Vijayakumar, Deepti Vashist, Sherri M. Jones, Timothy A. Jones, Jun Yang

Hum Mol Genet. 2015 Dec 15; 24(24): 7017–7030. Published online 2015 Sep 29. doi: 10.1093/hmg/ddv403

PMCID:: PMC4654056

Article PDF–1.6M

Select item 45996786.

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31

Pranav Dinesh Mathur, Junhuang Zou, Tihua Zheng, Ali Almishaal, Yong Wang, Qian Chen, Le Wang, Deepti Vashist, Steve Brown, Albert Park, Jun Yang

Hum Mol Genet. 2015 Nov 1; 24(21): 6213–6228. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv339

PMCID:: PMC4599678

Article PDF–2.0M

Select item 29091027.

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32

Aamira Tariq, Regie Lyn P. Santos, Mohammad Nasim Khan, Kwanghyuk Lee, Muhammad Jawad Hassan, Wasim Ahmad, Suzanne M. Leal

J Mol Med (Berl) Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: J Mol Med (Berl). 2006 Jun; 84(6): 484–490. Published online 2006 May 4. doi: 10.1007/s00109-005-0023-3

PMCID:: PMC2909102

Article PDF–780K

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